CA3176759A1 - Procede et marqueurs pour l'identification et la quantification relative d'une sequence d'acide nucleique, d'une mutation, d'un nombre de copies ou de changements de methylation a l'aide de combinaisons de nuclease, de ligature, de reparation d'adn et de reactions par polymerase avec prevention de remanenc - Google Patents

Procede et marqueurs pour l'identification et la quantification relative d'une sequence d'acide nucleique, d'une mutation, d'un nombre de copies ou de changements de methylation a l'aide de combinaisons de nuclease, de ligature, de reparation d'adn et de reactions par polymerase avec prevention de remanenc Download PDF

Info

Publication number
CA3176759A1
CA3176759A1 CA3176759A CA3176759A CA3176759A1 CA 3176759 A1 CA3176759 A1 CA 3176759A1 CA 3176759 A CA3176759 A CA 3176759A CA 3176759 A CA3176759 A CA 3176759A CA 3176759 A1 CA3176759 A1 CA 3176759A1
Authority
CA
Canada
Prior art keywords
markers
dna
cancer
specific
adenocarcinoma
Prior art date
Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)
Pending
Application number
CA3176759A
Other languages
English (en)
Inventor
Francis Barany
Manny D. BACOLOD
Jianmin Huang
Philip B. Feinberg
Aashiq H. MIRZA
Sarah F. Giardina
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
Cornell University
Original Assignee
Individual
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by Individual filed Critical Individual
Publication of CA3176759A1 publication Critical patent/CA3176759A1/fr
Pending legal-status Critical Current

Links

Classifications

    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6844Nucleic acid amplification reactions
    • C12Q1/6853Nucleic acid amplification reactions using modified primers or templates
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • C12Q1/6886Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material for cancer
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6844Nucleic acid amplification reactions
    • C12Q1/686Polymerase chain reaction [PCR]
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2521/00Reaction characterised by the enzymatic activity
    • C12Q2521/30Phosphoric diester hydrolysing, i.e. nuclease
    • C12Q2521/331Methylation site specific nuclease
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2521/00Reaction characterised by the enzymatic activity
    • C12Q2521/50Other enzymatic activities
    • C12Q2521/501Ligase
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2521/00Reaction characterised by the enzymatic activity
    • C12Q2521/50Other enzymatic activities
    • C12Q2521/514Mismatch repair protein
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2521/00Reaction characterised by the enzymatic activity
    • C12Q2521/50Other enzymatic activities
    • C12Q2521/539Deaminase
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2525/00Reactions involving modified oligonucleotides, nucleic acids, or nucleotides
    • C12Q2525/10Modifications characterised by
    • C12Q2525/121Modifications characterised by incorporating both deoxyribonucleotides and ribonucleotides
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2525/00Reactions involving modified oligonucleotides, nucleic acids, or nucleotides
    • C12Q2525/10Modifications characterised by
    • C12Q2525/161Modifications characterised by incorporating target specific and non-target specific sites
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2525/00Reactions involving modified oligonucleotides, nucleic acids, or nucleotides
    • C12Q2525/10Modifications characterised by
    • C12Q2525/186Modifications characterised by incorporating a non-extendable or blocking moiety
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2533/00Reactions characterised by the enzymatic reaction principle used
    • C12Q2533/10Reactions characterised by the enzymatic reaction principle used the purpose being to increase the length of an oligonucleotide strand
    • C12Q2533/107Probe or oligonucleotide ligation
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2537/00Reactions characterised by the reaction format or use of a specific feature
    • C12Q2537/10Reactions characterised by the reaction format or use of a specific feature the purpose or use of
    • C12Q2537/164Methylation detection other then bisulfite or methylation sensitive restriction endonucleases
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/118Prognosis of disease development
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/154Methylation markers

Landscapes

  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Organic Chemistry (AREA)
  • Health & Medical Sciences (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Engineering & Computer Science (AREA)
  • Genetics & Genomics (AREA)
  • Analytical Chemistry (AREA)
  • Immunology (AREA)
  • Molecular Biology (AREA)
  • General Engineering & Computer Science (AREA)
  • Biotechnology (AREA)
  • Biophysics (AREA)
  • Physics & Mathematics (AREA)
  • Biochemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Microbiology (AREA)
  • General Health & Medical Sciences (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Pathology (AREA)
  • Hospice & Palliative Care (AREA)
  • Oncology (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Enzymes And Modification Thereof (AREA)

Abstract

La présente invention concerne des procédés pour identifier et/ou quantifier une faible abondance, des mutations de bases nucléotidiques, des insertions, des délétions, des translocations, des variants d'épissage, des variants d'ARNmi, des produits de transcription alternatifs, des sites initiateurs alternatifs, des séquences codantes alternatives, des séquences non codantes alternatives, des épissages alternatifs, des insertions d'exons, des délétions d'exons, des insertions d'introns, ou un autre réarrangement au niveau du génome et/ou des bases nucléotidiques méthylées ou hydroxyméthylées, ainsi que des marqueurs pour identifier un cancer précoce, surveiller le traitement d'un cancer, et identifier la récidive précoce d'un cancer.
CA3176759A 2020-05-01 2021-04-29 Procede et marqueurs pour l'identification et la quantification relative d'une sequence d'acide nucleique, d'une mutation, d'un nombre de copies ou de changements de methylation a l'aide de combinaisons de nuclease, de ligature, de reparation d'adn et de reactions par polymerase avec prevention de remanenc Pending CA3176759A1 (fr)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US202063019142P 2020-05-01 2020-05-01
US63/019,142 2020-05-01
PCT/US2021/029998 WO2021222647A2 (fr) 2020-05-01 2021-04-29 Procédé et marqueurs pour l'identification et la quantification relative d'une séquence d'acide nucléique, d'une mutation, d'un nombre de copies ou de changements de méthylation à l'aide de combinaisons de nucléase, de ligature, de réparation d'adn et de réactions par polymérase avec prévention de rémanence

Publications (1)

Publication Number Publication Date
CA3176759A1 true CA3176759A1 (fr) 2021-11-04

Family

ID=78332228

Family Applications (1)

Application Number Title Priority Date Filing Date
CA3176759A Pending CA3176759A1 (fr) 2020-05-01 2021-04-29 Procede et marqueurs pour l'identification et la quantification relative d'une sequence d'acide nucleique, d'une mutation, d'un nombre de copies ou de changements de methylation a l'aide de combinaisons de nuclease, de ligature, de reparation d'adn et de reactions par polymerase avec prevention de remanenc

Country Status (8)

Country Link
US (1) US20230287484A1 (fr)
EP (1) EP4143313A2 (fr)
JP (1) JP2023524067A (fr)
AU (1) AU2021263936A1 (fr)
BR (1) BR112022022179A2 (fr)
CA (1) CA3176759A1 (fr)
GB (1) GB2611639A (fr)
WO (1) WO2021222647A2 (fr)

Families Citing this family (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN114196740A (zh) * 2021-12-09 2022-03-18 南京普济生物有限公司 用于同时识别多种基因类型的数字扩增检测方法、检测产品和检测试剂盒
JP2024043823A (ja) * 2022-09-20 2024-04-02 株式会社東芝 対象のがん罹患の可能性を分析する方法

Family Cites Families (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US7906288B2 (en) * 2006-01-04 2011-03-15 The Johns Hopkins University Compare-MS: method rapid, sensitive and accurate detection of DNA methylation
EP2825645B1 (fr) * 2012-03-15 2016-10-12 New England Biolabs, Inc. Procédés et compositions permettant de distinguer la cytosine de ses variantes et d'analyser le méthylome
WO2016057832A2 (fr) * 2014-10-08 2016-04-14 Cornell University Procédé pour l'identification et la détermination quantitative relative de l'expression de séquences d'acide nucléique, variant d'épissage, translocation, nombre de copies ou modifications de méthylation à l'aide de nucléases combinées, ligature, et réactions par polymérase avec prévention de l'entraînement

Also Published As

Publication number Publication date
WO2021222647A3 (fr) 2021-12-30
BR112022022179A2 (pt) 2022-12-13
JP2023524067A (ja) 2023-06-08
GB2611639A (en) 2023-04-12
GB202217105D0 (en) 2022-12-28
WO2021222647A2 (fr) 2021-11-04
US20230287484A1 (en) 2023-09-14
AU2021263936A1 (en) 2022-12-15
EP4143313A2 (fr) 2023-03-08

Similar Documents

Publication Publication Date Title
US20220243263A1 (en) Markers for identifying and quantifying of nucleic acid sequence mutation, expression, splice variant, translocation, copy number, or methylation changes
Thirlwell et al. Genome-wide DNA methylation analysis of archival formalin-fixed paraffin-embedded tissue using the Illumina Infinium HumanMethylation27 BeadChip
CA3126428A1 (fr) Compositions et methodes pour isoler de l'adn acellulaire
EP2250287B1 (fr) Détection et pronostic de cancer du poumon
KR20200105661A (ko) 유방암 검출방법
CN114096680A (zh) 用于检测dna样品中的甲基化改变的方法和系统
US11035849B2 (en) Predicting the occurrence of metastatic cancer using epigenomic biomarkers and non-invasive methodologies
WO2009108917A2 (fr) Marqueurs pour la détection améliorée du cancer du sein
US10697021B2 (en) Methods of detecting breast cancer brain metastasis with genomic and epigenomic biomarkers
KR20210119474A (ko) 자궁내막암 검출
WO2018069450A1 (fr) Biomarqueurs de méthylation pour le cancer du poumon
CA3151538A1 (fr) Compositions et procedes d'analyse d'adn acellulaire dans des dosages de partitionnement de methylation
US20230287484A1 (en) Method and markers for identification and relative quantification of nucleic acid sequence, mutation, copy number, or methylation changes using combinations of nuclease, ligation, deamination, dna repair, and polymerase reactions with carryover prevention
US20220205050A1 (en) Method and markers for identifying and quantifying of nucleic acid sequence, mutation, copy number, or methylation changes
US9328379B2 (en) Hypermethylation biomarkers for detection of head and neck squamous cell cancer
EP2956553B1 (fr) Procédés et trousses permettant d'identifier et de rectifier un biais dans le séquençage d'échantillons de polynucléotides
Zhao et al. The role of methylation-specific PCR and associated techniques in clinical diagnostics
US20150299809A1 (en) Biomarkers for Clinical Cancer Management
EP4291679A1 (fr) Procédés et compositions pour la détection de variants d'acide nucléique
US20080213781A1 (en) Methods of detecting methylation patterns within a CpG island
US20240229113A1 (en) Methods and compositions for detecting nucleic acid variants
Trapani DNA hypomethylation and hypermethylation in colorectal cancer initiation.
Burgener Multimodal Profiling of Cell-Free DNA for Detection and Characterization of Circulating Tumour DNA in Low Tumour Burden Settings
Kwan Epigenetic Study of Plasma Circulating DNA in Prostate Cancer